PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous...
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| Published in | American journal of human genetics Vol. 87; no. 6; pp. 866 - 872 |
|---|---|
| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
10.12.2010
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2010.10.031 |
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| Abstract | We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 (
PSMB8) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects.
PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called β5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in
PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. |
|---|---|
| AbstractList | We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 (PSMB8) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects. PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called β5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing.We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 (PSMB8) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects. PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called β5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 ( PSMB8 ) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects. PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called β5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 ( PSMB8) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects. PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called β5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 (PSMB8) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects. PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called β5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing. |
| Author | Agarwal, Anil K. Mizrachi, Dario Martínez de Villarreal, Laura Garg, Abhimanyu Xing, Chao Sousa, Ana Berta DeMartino, George N. Hernandez, Maria Dolores dos Santos, Heloísa G. |
| AuthorAffiliation | 6 Serviço de Genética Médica, Hospital de Santa Maria, 1649-035 Lisbon, Portugal 2 Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA 3 Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA 5 Departamento de Genética, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo León, 66603, México 1 The Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA 4 Division of Endocrinology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA |
| AuthorAffiliation_xml | – name: 3 Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – name: 6 Serviço de Genética Médica, Hospital de Santa Maria, 1649-035 Lisbon, Portugal – name: 1 The Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – name: 4 Division of Endocrinology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – name: 5 Departamento de Genética, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo León, 66603, México – name: 2 Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA |
| Author_xml | – sequence: 1 givenname: Anil K. surname: Agarwal fullname: Agarwal, Anil K. organization: The Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – sequence: 2 givenname: Chao surname: Xing fullname: Xing, Chao organization: Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – sequence: 3 givenname: George N. surname: DeMartino fullname: DeMartino, George N. organization: Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – sequence: 4 givenname: Dario surname: Mizrachi fullname: Mizrachi, Dario organization: Division of Endocrinology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – sequence: 5 givenname: Maria Dolores surname: Hernandez fullname: Hernandez, Maria Dolores organization: Departamento de Genética, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo León, 66603, México – sequence: 6 givenname: Ana Berta surname: Sousa fullname: Sousa, Ana Berta organization: Serviço de Genética Médica, Hospital de Santa Maria, 1649-035 Lisbon, Portugal – sequence: 7 givenname: Laura surname: Martínez de Villarreal fullname: Martínez de Villarreal, Laura organization: Departamento de Genética, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo León, 66603, México – sequence: 8 givenname: Heloísa G. surname: dos Santos fullname: dos Santos, Heloísa G. organization: Serviço de Genética Médica, Hospital de Santa Maria, 1649-035 Lisbon, Portugal – sequence: 9 givenname: Abhimanyu surname: Garg fullname: Garg, Abhimanyu email: abhimanyu.garg@utsouthwestern.edu organization: The Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23740895$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/21129723$$D View this record in MEDLINE/PubMed |
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| CODEN | AJHGAG |
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| Keywords | Human Multicatalytic endopeptidase complex Skin disease Enzyme Amyotrophy Anemia Panniculitis Hemopathy Joint Subunit Contracture Peptidases Striated muscle disease Hydrolases Genetics Lipodystrophy Adipose tissue disorders |
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| SubjectTerms | Anemia - genetics Biological and medical sciences Catalytic Domain Contracture - genetics Diseases of striated muscles. Neuromuscular diseases Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans Lipodystrophy - etiology Lipodystrophy - genetics Medical genetics Medical sciences Molecular and cellular biology Muscular Atrophy - genetics Mutation, Missense Neurology Panniculitis - complications Polymorphism, Single Nucleotide Proteasome Endopeptidase Complex - genetics |
| Title | PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome |
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